ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.2T>C (p.Met1Thr) (rs1554182645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666308 SCV000790579 likely pathogenic Pituitary hormone deficiency, combined 2 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV001065693 SCV001230665 pathogenic not provided 2019-01-26 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PROP1 mRNA. The next in-frame methionine is located at codon 214. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with combined pituitary hormone deficiency in a family (PMID: 16984240). ClinVar contains an entry for this variant (Variation ID: 551288). A different variant (c.1A>G) affecting the initiator codon has been determined to be pathogenic (PMID: 28734020, 16984240). This suggests that this variant is also likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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